Document Detail

The G-231A polymorphism in the endothelin-A receptor gene is associated with lower aortic pressure in patients with dilated cardiomyopathy.
MedLine Citation:
PMID:  17198909     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The endothelin system (ES) plays an important role in blood pressure (BP) regulation and also in the pathophysiology of idiopathic dilated cardiomyopathy (DCM). Recently, we demonstrated that a genetic polymorphism in the endothelin A (ET(A)) receptor gene was associated with survival in DCM patients. The aim of this study was to determine whether polymorphisms in the ET(A) receptor gene might be associated with the severity of DCM. METHODS: One hundred twenty-four consecutively recruited unrelated patients with DCM, who underwent a detailed phenotyping protocol, were genotyped for the ET(A) receptor G-231A polymorphism using a hybridization technique with allele-specific oligonucleotides. RESULTS: The exon 1 G-231A polymorphism of the ET(A) receptor gene, upstream of the translation start site, was significantly associated with directly measured intra-aortic pressure in that -231A allele carriers had significantly lower systolic (P = .0043), as well as mean (P = .0016) and diastolic (P = .0041) aortic pressure compared to noncarriers. The association of ET(A) G-231A with aortic pressure was independent from other factors such as prior medication, left ventricular end-diastolic diameter, age, gender, and New York Heart Association (NYHA) functional classification. However, no such association was seen for cuff BP and survival rates were not significantly different between -231A allele carriers and -231G homozygotes (log rank test, P = .66). No significant association with any other parameter investigated in the present study could be observed, even when men and women were analyzed separately. CONCLUSIONS: Our results suggest an association of genetic variation in the ET(A) receptor gene with aortic pressure in patients with DCM.
Ralph Telgmann; Bassam A Harb; Cemil Ozcelik; Andreas Perrot; Jacqueline Schönfelder; Andreas Nonnenmacher; Marcus Brand; Klaus Schmidt-Petersen; Rainer Dietz; Reinhold Kreutz; Karl-Josef Osterziel; Martin Paul; Stefan-Martin Brand-Herrmann
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of hypertension     Volume:  20     ISSN:  0895-7061     ISO Abbreviation:  Am. J. Hypertens.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-02     Completed Date:  2007-03-15     Revised Date:  2009-02-24    
Medline Journal Info:
Nlm Unique ID:  8803676     Medline TA:  Am J Hypertens     Country:  United States    
Other Details:
Languages:  eng     Pagination:  32-7     Citation Subset:  IM    
Leibniz-Institute for Arteriosclerosis Research, Department of Molecular Genetics of Cardiovascular Disease, University of Muenster, Domagkstrasse 3, D-48149 Muenster, Germany.
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MeSH Terms
Aorta / physiopathology*
Base Sequence
Blood Pressure / genetics*
Cardiomyopathy, Dilated / genetics*,  physiopathology
Coronary Angiography
Middle Aged
Molecular Sequence Data
Polymorphism, Single Nucleotide
Receptor, Endothelin A / genetics*
Reg. No./Substance:
0/Receptor, Endothelin A

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